A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970139



Internal ID19236607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9466193..9466274hg38UCSC Ensembl
Outerchr2:9606322..9606403hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114050
Supporting Variants
SamplesKWS2
Known GenesCPSF3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970139
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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